HGVS | Genome Assembly |
---|---|
NC_000017.11:g.40099252T>C , CM000679.2:g.40099252T>C | GRCh38 |
NC_000017.10:g.38255505T>C , CM000679.1:g.38255505T>C | GRCh37 |
NC_000017.9:g.35509031T>C | NCBI36 |
NG_033084.1:g.6474A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000246672.4:c.31+812A>G MANE Select | ENSP00000246672.3:n.31+812A>G | |
ENST00000246672.3:c.31+812A>G | ENSP00000246672.3:n.31+812A>G | |
NM_021724.4:c.31+812A>G | NP_068370.1:n.31+812A>G | |
NM_021724.5:c.31+812A>G MANE Select | NP_068370.1:n.31+812A>G |